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Clinical Cardiology Nov 1995We present an unusual case of a left atrial myxoma as a feature of a familial mesoectodermal disorder and review the literature. The new term "familial endocrine...
We present an unusual case of a left atrial myxoma as a feature of a familial mesoectodermal disorder and review the literature. The new term "familial endocrine myxolentiginosis" is proposed, which is descriptive of the major clinical components of the syndrome. Myriad features of this disorder include (1) cardiac myxomas; (2) cutaneous myxomas; (3) multiple lentigines or blue nevi, particularly of the head and neck; (4) bilateral primary pigmented nodular adrenocortical hyperplasia; (5) unusual testicular tumors; (6) pituitary tumors; (7) myxoid fibroadenomas of the breast; (8) myxomatous disorder of the stroma of the breast; (9) ductal adenoma of the breast; and (10) psammomatous melanotic schwannoma. A tentative diagnosis is suggested by identifying two features and a definitive diagnosis is made by three or more features. The clinical and pathologic features of cardiac myxoma in familial endocrine myxolentiginosis are identical to those of familial cardiac myxoma: age < 40 years, atypical locations, multicentric origins, and recurrent presentations. A Venn diagram classification for cardiac myxomas is proposed. We include photographic, echocardiographic, biopsy, and adrenal computerized tomography documentation in our patient. Recognition of this disorder is important because of its clinical, surgical, and genetic implications. The availability of transesophageal echocardiographic technology should allow early diagnosis of this underdiagnosed entity. Clinicians should consider this entity in the differential diagnosis of their patients with any one of these manifestations.
Topics: Adult; Echocardiography, Transesophageal; Female; Heart Atria; Heart Neoplasms; Humans; Lentigo; Myxoma; Syndrome
PubMed: 8590539
DOI: 10.1002/clc.4960181116 -
Orphanet Journal of Rare Diseases Jun 2006The Carney complex (CNC) is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Skin pigmentation anomalies... (Review)
Review
The Carney complex (CNC) is a dominantly inherited syndrome characterized by spotty skin pigmentation, endocrine overactivity and myxomas. Skin pigmentation anomalies include lentigines and blue naevi. The most common endocrine gland manifestations are acromegaly, thyroid and testicular tumors, and adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease (PPNAD). PPNAD, a rare cause of Cushing's syndrome, is due to primary bilateral adrenal defect that can be also observed in some patients without other CNC manifestations or familial history of the disease. Myxomas can be observed in the heart, skin and breast. Cardiac myxomas can develop in any cardiac chamber and may be multiple. One of the putative CNC genes located on 17q22-24, (PRKAR1A), has been identified to encode the regulatory subunit (R1A) of protein kinase A. Heterozygous inactivating mutations of PRKAR1A were reported initially in 45 to 65% of CNC index cases, and may be present in about 80% of the CNC families presenting mainly with Cushing's syndrome. PRKAR1A is a key component of the cAMP signaling pathway that has been implicated in endocrine tumorigenesis and could, at least partly, function as a tumor suppressor gene. Genetic analysis should be proposed to all CNC index cases. Patients with CNC or with a genetic predisposition to CNC should have regular screening for manifestations of the disease. Clinical work-up for all the manifestations of CNC should be performed at least once a year in all patients and should start in infancy. Cardiac myxomas require surgical removal. Treatment of the other manifestations of CNC should be discussed and may include follow-up, surgery, or medical treatment depending on the location of the tumor, its size, the existence of clinical signs of tumor mass or hormonal excess, and the suspicion of malignancy. Bilateral adrenalectomy is the most common treatment for Cushing's syndrome due to PPNAD.
Topics: Adolescent; Adult; Child; Child, Preschool; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Endocrine System Diseases; Genetic Testing; Heart Neoplasms; Humans; Hyperpigmentation; Myxoma; Rare Diseases; Syndrome; Young Adult
PubMed: 16756677
DOI: 10.1186/1750-1172-1-21 -
BMC Cardiovascular Disorders Dec 2022Atrial myxomas account for approximately 50% of all primary cardiac tumors. The size, location, risk of embolic event, and involvement of other cardiac structures, are...
BACKGROUND
Atrial myxomas account for approximately 50% of all primary cardiac tumors. The size, location, risk of embolic event, and involvement of other cardiac structures, are all factors that contribute to the wide range of presentation for cardiac myxomas. Patients with myxomas may remain asymptomatic, while others may report symptoms such as fatigue and fever, dyspnea, and syncope. It is important to recognize arrhythmias as an uncommon symptom of myxomas.
CASE PRESENTATION
We report a rare case of a 67-year-old man who presented with pre-syncopal episodes, symptomatic bradycardia, and night sweats found to have a 5.5 × 5.1 × 3 cm myxoma in the left atrium. During diastole the mass caused dynamic flow obstruction across the mitral valve. The patient underwent surgical resection of the mass given his symptomatology and risk of embolic events. Removal of the myxoma resulted in resolution of both pre-syncopal episodes and the patient's sinus bradycardia.
CONCLUSION
Atrial myxomas are a rare cause of pre-syncope and symptomatic bradycardia. It is important to have a clinical suspicion for atrial myxomas given early diagnosis and surgical intervention are key in improving the prognosis of these patients. This case also highlights the importance of taking into account the source of the myxoma's blood supply in relationship to other cardiac structures, and further correlating these findings with clinical symptoms.
Topics: Male; Humans; Aged; Bradycardia; Atrial Fibrillation; Heart Atria; Heart Neoplasms; Syncope; Myxoma
PubMed: 36585613
DOI: 10.1186/s12872-022-03018-5 -
Annals of Cardiac Anaesthesia 2021Cardiac myxomas are the most common benign tumors of the heart. They are most commonly found in the left atrium, followed by a right atrium and rarely in the left...
Cardiac myxomas are the most common benign tumors of the heart. They are most commonly found in the left atrium, followed by a right atrium and rarely in the left ventricle. Herein, we report a rare case of left ventricular myxoma in a patient who had twice undergone removal of left atrial myxoma. Complete removal of the tumor through aortotomy, without causing fragmentation led to the uneventful recovery of the patient.
Topics: Heart Atria; Heart Neoplasms; Heart Ventricles; Humans; Myxoma
PubMed: 34747762
DOI: 10.4103/aca.ACA_7_20 -
World Journal of Surgical Oncology Mar 2023Cardiac myxoma is the most common type of primary cardiac tumor, with the majority located in the atrial wall. The tumor is attached to valvular structures in a few... (Review)
Review
BACKGROUND
Cardiac myxoma is the most common type of primary cardiac tumor, with the majority located in the atrial wall. The tumor is attached to valvular structures in a few cases, of which the pulmonary valve is the least affected. Pulmonary valve myxoma may have different clinical manifestations from the more common cardiac myxomas because of its vital position. A misdiagnosis of these types of cardiac myxoma may be detrimental to the care and well-being of patients. Therefore, this systematic review aims to define the clinical characteristics of pulmonary valve myxoma and how this differs from a more common cardiac myxoma.
METHODS
Employed literature was obtained from PubMed, ScienceDirect, Scopus, Springer, and ProQuest without a publication year limit on August 23, 2022. The keyword was "pulmonary valve myxoma." Inclusion criteria were as follows: (1) case report or series, (2) available individual patient data, and (3) myxoma that is attached to pulmonary valve structures with no evidence of metastasis. Non-English language or nonhuman subject studies were excluded. Johanna Briggs Institute checklists were used for the risk of bias assessment. Data are presented descriptively.
RESULTS
This review included 9 case reports from 2237 articles. All cases show a low risk of bias. Pulmonary valve myxoma is dominated by males (5:4), and the patient's median age is 57 years with a bimodal distribution in pediatric and geriatric populations. The clinical manifestation of pulmonary valve myxoma is often unspecified or asymptomatic. However, systolic murmur in the pulmonary valve area is heard in 67% of cases. Echocardiography remains the diagnostic modality of choice in the majority of cases. Tumor attached to the pulmonary cusps or annulus and extended to adjacent tissues in all cases. Therefore, valve replacement or adjacent tissue reconstructions are required in 77% of cases. The recurrence and mortality are considerably high, with 33% and 22% cases, respectively.
CONCLUSIONS
Pulmonary valve myxoma is more common in males with a bimodal age distribution, and its outcomes seem worse than usual cardiac myxomas. Increasing awareness of its clinical symptoms, early diagnosis, and complete myxoma resection before the presence of congestive heart failure symptoms are important in achieving excellent outcomes. A firm embolization blockade is needed to prevent myxoma recurrence.
Topics: Male; Humans; Child; Aged; Middle Aged; Pulmonary Valve; Echocardiography; Heart Neoplasms; Myxoma; Heart Atria
PubMed: 36941612
DOI: 10.1186/s12957-023-02984-0 -
BMJ Case Reports Apr 2022Cardiac myxomas are scarce and their clinical manifestations can often be misdiagnosed or confused with other medical conditions. However, early diagnosis and surgical...
Cardiac myxomas are scarce and their clinical manifestations can often be misdiagnosed or confused with other medical conditions. However, early diagnosis and surgical resection can prevent devastating complications of myxomas.We herein describe a case of a huge left atrial myxoma of a female patient in her late 30s. What makes our case unique, apart from the massive size of the myxoma, is the unusual clinical presentation with incessant cough and haemoptysis for more than 6 months. The diagnosis was made by echocardiography and cardiac MR and successful surgical resection was performed with good long-term outcome.
Topics: Echocardiography; Female; Heart Atria; Heart Neoplasms; Hemoptysis; Humans; Myxoma
PubMed: 35487639
DOI: 10.1136/bcr-2021-245938 -
The American Journal of Case Reports Sep 2015Right atrial myxoma accounts for 15-20% of cardiac myxomas and syncope is a very rare manifestation. We present the case of an 89-year-old man with right atrial myxoma...
BACKGROUND
Right atrial myxoma accounts for 15-20% of cardiac myxomas and syncope is a very rare manifestation. We present the case of an 89-year-old man with right atrial myxoma and syncope, and discuss the role of cardiac magnetic resonance imaging (MRI) in the diagnosis of myxomas.
CASE REPORT
An 89-year-old man with a history of hypertension, hyperlipidemia, chronic kidney disease stage 4, mild dementia, and benign prostatic hyperplasia presented to the emergency department with an episode of syncope. Physical examination demonstrated normal and regular heart sounds, and normal respiratory rate and oxygen saturation. Echocardiogram described a well-circumscribed echo-dense mass in the right atrial cavity, which was attached to the septum but not obstructing the tricuspid annulus, measuring 1.7×2.2 cm at its widest diameter. Cardiac MRI revealed a mass with dark intensity which enhanced heterogeneously following intravenous administration of gadolinium-chelate, consistent with a myxoma. The location of this myxoma, coupled with the presence of a stalk allowing mobility, provides a clue to how this patient experienced transient obstruction of the tricuspid valve leading to syncope.
CONCLUSIONS
Right heart tumors should be considered in the differential diagnosis of unexplained syncope. Cardiac MRI with gadolinium-chelate administration can help differentiate this tumor from a right-sided atrial thrombus, which can pose a diagnostic challenge.
Topics: Aged, 80 and over; Diagnosis, Differential; Electrocardiography; Heart Atria; Heart Neoplasms; Humans; Magnetic Resonance Imaging, Cine; Male; Myxoma; Syncope; Tomography, X-Ray Computed; Ultrasonography, Doppler
PubMed: 26390076
DOI: 10.12659/AJCR.894513 -
Medicine Nov 2022Aggressive angiomyxoma (AAM) is a rare mesenchymal tumor primarily involving the lower genital tract of reproductive females. It often shares pathologic morphology with... (Review)
Review
RATIONALE
Aggressive angiomyxoma (AAM) is a rare mesenchymal tumor primarily involving the lower genital tract of reproductive females. It often shares pathologic morphology with other mesenchymal lesions, which result in diagnostic difficulties for pathologists.
PATIENT CONCERNS AND DIAGNOSES
We described the case of a 32-year-old female presenting with a pelvic mass. Imaging examination showed a "swirling sign" within the mass. The mass was 10.2 × 10 × 7.7 cm, located in the right front of the uterus, with unclear demarcation from the surrounding organs and tissues. The gross appearance was grayish brown with a solid section and a myxedematous cut surface. Microscopically, it was a mesenchymal tumor with a presence of perivascular smooth muscle fibers radiating from the blood vessel and an infiltrative growth pattern. The pelvic AAM was diagnosed based on clinicopathologic and imaging features.
INTERVENTIONS AND OUTCOMES
A surgery with local excision of the mass was performed. The patient experienced 1 relapse during 2-year follow-up and underwent the radiation therapy.
LESSONS
When the pathological morphology of AAM overlaps with other mesenchymal lesions, the comprehensive understanding of tumor clinicopathological characteristics combined with imaging features is important for the accurate diagnosis of AAM.
Topics: Humans; Female; Adult; Neoplasm Recurrence, Local; Myxoma; Pelvis
PubMed: 36401457
DOI: 10.1097/MD.0000000000031617 -
Neurology India 2021Myxomas are the most common cardiac tumors and present clinically with cardiac manifestations, systemic constitutional symptoms, and embolic events. Posterior... (Review)
Review
Myxomas are the most common cardiac tumors and present clinically with cardiac manifestations, systemic constitutional symptoms, and embolic events. Posterior circulation involvement occurs in approximately 20 percent of cerebral ischemic events.The endovascular technique is an established life-saving therapy for eligible patients upto 24 hours from symptom onset. However, the role of endovascular management in embolic atrial myxoma remains unknown with no international consensus guidelines for the management of stroke in such patient population. Here, we present a case report of an embolic posterior circulation stroke in a young female treated with mechanical thrombectomy at 23 hours from symptom onset. To the best of our knowledge, this is the first thrombectomy case in posterior circulation with embolism from myxoma. Further workup confirmed an atrial myxoma which was resected. We also review the previous cases with mechanical thrombectomy done in such cases.
Topics: Embolism; Female; Heart Neoplasms; Humans; Myxoma; Stroke; Thrombectomy
PubMed: 34169873
DOI: 10.4103/0028-3886.319216 -
Clinical Cardiology Feb 2011We report on a family of 4 members, all of whom have had multifocal, recurrent atrial myxomas associated with skin pigmentation, melanotic schwannomas, mucocutaneous... (Review)
Review
We report on a family of 4 members, all of whom have had multifocal, recurrent atrial myxomas associated with skin pigmentation, melanotic schwannomas, mucocutaneous myxomas, and tumors of the ovary and pituitary, adrenal, and thyroid glands. Immunochemistry of the myxoma cells is positive for calretinin, confirming their neuroendocrine origin. Genetic studies confirmed mutations in the gene coding protein kinase A, regulatory subunit 1-α (PRKAR1α). This is Carney's complex, characterized by multiple, mucocutaneous myxomas; pigmented lesions over the lips, conjunctiva, and genitalia; adenomas of the breast and thyroid; schwannomas; and endocrinal abnormalities including Cushing syndrome and acromegaly. Members of the family require vigorous screening, including urinary free cortisol, plasma transforming growth factor-β(1) and thyrotropin-releasing hormone, testicular ultrasound, routine echocardiographic screening, searches for cardiac and mucocutaneous myxomas in multiple locations, and genetic studies for the PRKAR1α gene sequence.
Topics: Adult; Aged; Carney Complex; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit; Female; Heart Atria; Heart Neoplasms; Humans; Middle Aged; Mutation; Myxoma; Recurrence; Risk Factors
PubMed: 21298650
DOI: 10.1002/clc.20845